« Previous
Next »
Survey of Ophthalmology
Volume 44, Issue 3
, Pages 235-246
, November 1999
Tumor Suppressor Genes in Ophthalmology
References
-
.
Identification and characterization of the tuberous sclerosis gene on chromosome 16. The European Chromosome 16 Tuberous Sclerosis Consortium. Cell.
7. 1993;5:1305–1315
- . The retinoblastoma protein pathway in cell cycle control and cancer. Exp Cell Res. 1997;237:1–6
- Aberrant regulation of ras proteins in malignant tumour cells from type 1 neurofibromatosis patients [see comments]. Nature. 1992;356:713–715
- An adenovirus mutant that replicates selectively in p53-deficient human tumor cells [see comments]. Science. 1996;274:373–376
- Localization of the gene for familial adenomatous polyposis on chromosome 5. Nature. 1987;328:614–616
- 9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene. Hum Mol Genet. 1994;3:1829–1832
- A major segment of the neurofibromatosis type 1 gene (cDNA sequence, genomic structure, and point mutations [published erratum appears in Cell 1990 Aug 10;62(3):following 608]). Cell. 1990;62:193–201
-
Selective killing of transformed cells by cyclin/cyclin-dependent kinase 2 antagonists [see comments].
Proc Natl Acad Sci USA. 1999;96:4325–4329
- Adenovirus-mediated p16/CDKN2 gene transfer suppresses glioma invasion in vitro. Oncogene. 1997;15:2049–2057
- Molecular genetic investigations of the mechanism of tumorigenesis in von Hippel-Lindau disease (analysis of allele loss in VHL tumours). Hum Genet. 1994;93:53–58
- Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. Hum Mol Genet. 1994;3:1303–1308
- Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene. Am J Hum Genet. 1995;57:1151–1158
- Cell anchorage regulates apoptosis through the retinoblastoma tumor suppressor/E2F pathway. J Biol Chem. 1997;272:8125–8128
-
.
Signal-transducing protein phosphorylation cascades mediated by Ras/Rho proteins in the mammalian cell (the potential for multiplex signalling).
Biochem J. 1996;318:729–747
- Mice deficient for p53 are developmentally normal but susceptible to spontaneous tumors. Nature. 1992;356:215–221
- WAF1, a potential mediator of p53 tumor suppression. Cell. 1993;75:817–825
- . Human cancer syndromes (clues to the origin and nature of cancer). Science. 1997;278:1043–1050
- . Neurofibromatosis type 1 (piecing the puzzle together). Can J Neurol Sci. 1998;25:181–191
-
A targeted chain-termination mutation in the mouse Apc gene results in multiple intestinal tumors.
Proc Natl Acad Sci USA. 1994;91:8969–8973
- A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature. 1986;323:643–646
- Structural evidence for the authenticity of the human retinoblastoma gene. Science. 1987;236:1657–1661
- . The complexity of p53 modulation (emerging patterns from divergent signals). Genes Dev. 1998;12:2973–2983
- . The potential of farnesyltransferase inhibitors as cancer chemotherapeutics. Annu Rev Pharmacol Toxicol. 1997;37:143–166
- Mutations of the VHL tumour suppressor gene in renal carcinoma. Nat Genet. 1994;7:85–90
-
Defective placental vasculogenesis causes embryonic lethality in VHL-deficient mice.
Proc Natl Acad Sci USA. 1997;94:9102–9107
- . Apoptotic pathways (the roads to ruin). Cell. 1998;94:695–698
- Invasive giant cell astrocytoma of the retina in a patient with tuberous sclerosis. Ophthalmology. 1999;106:639–642
- . Recent insights into neurofibromatosis type 1 (clear genetic progress). Arch Neurol. 1998;55:778–780
-
.
Identification of the neurofibromatosis type 1 gene product.
Proc Natl Acad Sci USA. 1991;88:9658–9662
- . Overview of RB gene mutations in patients with retinoblastoma. Implications for clinical genetic screening. Ophthalmology. 1998;105:1442–1447
- Abnormalities in structure and expression of the human retinoblastoma gene in SCLC. Science. 1988;241:353–357
- CDK phosphorylation triggers sequential intramolecular interactions that progressively block Rb functions as cells move through G1. Cell. 1999;98:859–869
- Local carboplatin therapy in transgenic murine retinoblastoma. Invest Ophthalmol Vis Sci. 1996;37:1892–1898
- . Clinical implications of the p53 tumor-suppressor gene [see comments]. N Engl J Med. 1993;329:1318–1327
- . The retinoblastoma protein (a master regulator of cell cycle, differentiation and apoptosis). Eur J Biochem. 1997;246:581–601
- . Tumor suppression by the human von Hippel-Lindau gene product. Nat Med. 1995;1:822–826
-
.
pVHL19 is a biologically active product of the von Hippel-Lindau gene arising from international translation initiation.
Proc Natl Acad Sci USA. 1998;95:11661–11666
- Chromosome 9 deletion in sporadic and familial melanomas in vivo. Oncogene. 1994;9:1649–1653
- . Gigas, a Drosophila homolog of tuberous sclerosis gene product-2, regulates the cell cycle. Cell. 1999;96:529–539
- Tumour predisposition in mice heterozygous for a targeted mutation in NF1. Nat Genet. 1994;7:353–361
- . The expanding role of cell cycle regulators [comment]. Science. 1998;280:1035–1036
- . p53 oncoprotein overexpression in choroidal melanoma. Mod Pathol. 1996;9:267–272
- . Familial malignant melanoma of the uvea and p53 (a Victorian detective story). Surv Ophthalmol. 1993;37:457–462
- Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis. Hum Mol Genet. 1997;6:2155–2161
- . Functions of the von Hippel-Lindau tumour suppressor protein. J Intern Med. 1998;243:535–539
- . The VHL tumour-suppressor gene paradigm. Trends Genet. 1998;14:423–426
- Deletions spanning the neurofibromatosis 1 gene (identification and phenotype of five patients). Am J Hum Genet. 1994;54:424–436
- . Binding of the von Hippel-Lindau tumor suppressor protein to Elongin B and C [see comments]. Science. 1995;269:1444–1446
- Identification of FAP locus genes from chromosome 5q21. Science. 1991;253:661–665
- . Lessons from hereditary colorectal cancer. Cell. 1996;87:159–170
- . Neurofibromatosis associated with malignant neurofibromas. Arch Dermatol. 1973;107:747–750
-
.
Mutation and cancer (statistical study of retinoblastoma).
Proc Natl Acad Sci USA. 1971;68:820–823
-
Transgenic rescue from embryonic lethality and renal carcinogenesis in the Eker rat model by introduction of a wild-type Tsc2 gene.
Proc Natl Acad Sci USA. 1997;94:3990–3993
- . Ophthalmological issues in the neurofibromatoses. J Pediatr Ophthalmol Strabismus. 1996;33:255–259
- Identification of the von Hippel-Lindau disease tumor suppressor gene [see comments]. Science. 1993;260:1317–1320
- Human retinoblastoma susceptibility gene (cloning, identification, and sequence). Science. 1987;235:1394–1399
- . Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis. Nat Genet. 1993;3:122–126
- Somatic mutations in the neurofibromatosis 1 gene in human tumors. Cell. 1992;69:275–281
- . Genes in the RB pathway and their knockout in mice. Semin Cancer Biol. 1996;7:279–289
- The spectrum of RB1 germ-line mutations in hereditary retinoblastoma. Am J Hum Genet. 1996;58:940–949
- Distinct RB1 gene mutations with low penetrance in heredity retinoblastoma. Hum Genet. 1994;94:349–354
- Retinal pigment epithelium abnormalities in mice with adenomatous polyposis coli gene disruption. Arch Ophthalmol. 1997;115:645–650
- Mice heterozygous for a mutation at the NF2 tumor suppressor locus develop a range of highly metastatic tumors. Genes Dev. 1998;12:1121–1133
- . Analysis of p16 (CDKN2/MTS-12/INK4A) alterations in primary sporadic uveal melanoma. Invest Ophthalmol Vis Sci. 1999;40:779–783
- Predominant occurrence of somatic mutations of the NF2 gene in meningiomas and schwannomas. Genes Chromosomes Cancer. 1995;13:211–216
- Somatic mutations of the APC gene in colorectal tumors (mutation cluster region in the APC gene). Hum Mol Genet. 1992;1:229–233
- . Principles of CDK regulation. Nature. 1995;374:131–134
- . p53-dependent apoptosis produced by Rb-deficiency in the developing mouse lens [see comments]. Nature. 1994;371:72–74
- NIH conference. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis). An update. Ann Intern Med. 1990;113:39–52
- Localization of the genetic defect in familial adenomatous polyposis within a small region of chromosome 5. Am J Hum Genet. 1988;43:638–644
- . Apoptosis in ocular disease (a molecular overview). Ophthalmic Genet. 1996;17:145–165
- . Deregulation of cyclin E and D1 in breast cancer is associated with inactivation of the retinoblastoma protein. Oncogene. 1997;14:295–304
- . Retinal lesion in tuberous sclerosis. Arch Ophthalmol. 1976;94:1277–1280
- Deletion mapping of chromosome region 9p21-p22 surrounding the CDKN2 locus in melanoma. Int J Cancer. 1996;65:762–767
- Germline mutation profile of the VHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma. Hum Mutat. 1998;12:424–430
- Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients. Cell. 1993;75:959–968
-
.
Oncogenic point mutations in exon 20 of the RB1 gene in families showing incomplete penetrance and mild expression of the retinoblastoma phenotype.
Proc Natl Acad Sci USA. 1992;89:6177–6181
-
Incomplete penetrance of familial retinoblastoma linked to germ-line mutations that result in partial loss of RB function.
Proc Natl Acad Sci USA. 1997;94:12036–12040
- . Neurofibromatosis type 1 (NF1) (a protein truncation assay yielding identification of mutations in 73% of patients). J Med Genet. 1998;35:813–820
- Tumor-selective transgene expression in vivo mediated by an E2F-responsive adenoviral vector. Nat Med. 1997;3:1145–1149
- . Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles. Cancer Res. 1998;58:4766–4770
- . G protein-coupled receptors and signaling pathways regulating growth responses. FASEB J. 1996;10:741–749
- Two loci for tuberous sclerosis (one on 9q34 and one on 16p13). Ann Hum Genet. 1994;58:107–127
- . Signaling to p53 (breaking the MDM2-p53 circuit). Cell. 1998;95:5–8
- Ocular abnormalities in neurofibromatosis. Am J Ophthalmol. 1995;120:634–641
-
Loss of function of the tuberous sclerosis 2 tumor suppressor gene results in embryonic lethality characterized by disrupted neuroepithelial growth and development.
Proc Natl Acad Sci USA. 1998;95:15629–15634
- Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2 [see comments]. Nature. 1993;363:515–521
- Flanking markers bracket the neurofibromatosis type 2 (NF2) gene on chromosome 22. Am J Hum Genet. 1990;46:323–328
- Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease. Am J Hum Genet. 1996;59:331–342
- Presymptomatic diagnosis for neurofibromatosis 2 with chromosome 22 markers. Neurology. 1993;43:1753–1760
- Adenovirally transferred p16INK4/CDKN2 and p53 genes cooperate to induce apoptotic tumor cell death. Nat Med. 1997;3:313–319
- Reactivation of mutant p53 through interaction of a C-terminal peptide with the core domain. Mol Cell Biol. 1999;19:3395–3402
- . A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK4 [see comments]. Nature. 1993;366:704–707
- . Cancer cell cycles. Science. 1996;274:1672–1677
- Lack of association among typical congenital hypertrophy of the retinal pigment epithelium, adenomatous polyposis, and Gardner syndrome. Ophthalmology. 1992;99:1709–1713
- Alleles of the APC gene (an attenuated form of familial polyposis). Cell. 1993;75:951–957
- Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome [see comments]. Nature. 1990;348:747–749
- . Beta-catenin regulates expression of cyclin D1 in colon carcinoma cells. Nature. 1999;398:422–426
- Increased expression and mutation of p53 in choroidal melanoma. Br J Cancer. 1992;66:900–904
- Prevalence and importance of pigmented ocular fundus lesions in Gardner's syndrome. N Engl J Med. 1987;316:661–667
- A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor [published erratum appears in Cell 1993 Nov 19;75(4):826]. Cell. 1993;72:791–800
-
.
Cell-cell communication in carcinogenesis.
Frontiers in Bioscience. 1998;3:208–236
- Mutations in the TSC2 gene (analysis of the complete coding sequence using the protein truncation test (PTT)). Hum Mol Genet. 1997;6:1409–1414
- Rapid detection of translation-terminating mutations at the adenomatous polyposis coli (APC) gene by direct protein truncation test. Genomics. 1994;20:1–4
- Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science. 1997;277:805–808
- Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products. Hum Mol Genet. 1998;7:1053–1057
- Mutation spectrum of the retinoblastoma gene in osteosarcomas. Cancer Res. 1994;54:3042–3048
- Diagnosis of neurofibromatosis I by using tightly linked, flanking DNA markers. Am J Hum Genet. 1990;46:943–949
- . Clinical characteristics of ocular angiomatosis in von Hippel-Lindau disease and correlation with germline mutation. Arch Ophthalmol. 1999;117:371–378
- . Retinoblastoma protein switches the E2F site from positive to negative element. Nature. 1992;358:259–261
- Prediction of the risk of hereditary retinoblastoma, using DNA polymorphisms within the retinoblastoma gene. N Engl J Med. 1988;318:151–157
- Retinoblastoma in transgenic mice. Nature. 1990;343:665–669
- The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis. J Biol Chem. 1997;272:6097–6100
- Germline mutations in the von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. Hum Mutat. 1996;8:348–357
- . Iris (Lisch) nodules in neurofibromatosis. Clin Genet. 1986;29:51–55
- . Neurofibromatosis and associated tumour suppressor genes. Pathol Res Pract. 1996;192:647–657
☆ The author has no proprietary or commercial interest in any product or concept discussed in this article.
☆☆ The author was supported by a Research to Prevent Blindness, Inc. Career Development Award and by NEI grant K08 EY0038201.
PII: S0039-6257(99)00102-2
© 1999 Elsevier Science Inc. All rights reserved.
« Previous
Next »
Survey of Ophthalmology
Volume 44, Issue 3
, Pages 235-246
, November 1999
